Mitochondrial trifunctional protein deficiency

Common Name(s)

Mitochondrial trifunctional protein deficiency

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; {272120}), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy ({13:Spiekerkoetter et al., 2003}). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood ({3:den Boer et al., 2003}). See also isolated LCHAD deficiency ({609016}), which is caused by mutation in the HADHA gene.
 

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Condition Specific Organizations

Following organizations serve the condition "Mitochondrial trifunctional protein deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mitochondrial trifunctional protein deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
 

Author(s): K E Orii, T Aoyama, K Wakui, Y Fukushima, H Miyajima, S Yamaguchi, T Orii, N Kondo, T Hashimoto

Journal: Hum. Mol. Genet.. 1997 Aug;6(8):1215-24.

 

Mitochondrial trifunctional protein (TP), an enzyme of beta-oxidation, is a multienzyme complex composed of four molecules of the alpha-subunit (HADHA) containing the enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase domains and four molecules of the beta-subunit (HADHB) containing ...

Last Updated: 30 Oct 1997

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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
 

Author(s): L IJlst, J P Ruiter, J M Hoovers, M E Jakobs, R J Wanders

Journal: J. Clin. Invest.. 1996 Aug;98(4):1028-33.

 

Mitochondrial trifunctional protein (MTP) is a recently identified enzyme involved in mitochondrial beta-oxidation, harboring long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and long-chain 3-ketothiolase activity. A deficiency of this protein is ...

Last Updated: 10 Oct 1996

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Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
 

Author(s): S Ushikubo, T Aoyama, T Kamijo, R J Wanders, P Rinaldo, J Vockley, T Hashimoto

Journal: Am. J. Hum. Genet.. 1996 May;58(5):979-88.

 

Mitochondrial trifunctional protein (TP) is an enzyme complex with three activities: enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase. Studies on defects in this enzyme in patients with TP deficiency suggest that there are two types of defect. Patients ...

Last Updated: 25 Jul 1996

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Reviews from the PubMed Database

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The terms "Mitochondrial trifunctional protein deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
 

Status: Available

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2); Mitochondrial Trifunctional Protein Deficiency; Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogen Storage Disorders; Pyruvate Carboxylase Deficiency, Type B; Acyl-coA Dehydrogenase, Type 9

 

Last Updated: 7 Oct 2013

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Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder
 

Status: Recruiting

Condition Summary: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency; Carnitine Palmitoyltransferase 2 (CPT2) Deficiency; Mitochondrial Trifunctional Protein (TFP) Deficiency; Long-chain 3 hydroxyacylCoA Dehydrogenase (LCHAD) Deficiency

 

Last Updated: 4 Nov 2013

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